RIOX2

Chr 3

ribosomal oxygenase 2

Also known as: JMJD10, MDIG, MINA, MINA53, NO52, ROX

NCBI Gene: 84864ENSG00000170854UniProt: Q8IUF8

MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.07LOEUF
pLI 0.000
Z-score 1.31
OE 0.70 (0.46–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.05Z-score
OE missense 0.99 (0.89–1.10)
253 obs / 255.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.46–1.07)
0≤0.351.4
Missense OE?0.99 (0.89–1.10)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 15 / 21.6Missense obs/exp: 253 / 255.5Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RIOX2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients